Immunoglobulin G4-related disease and B-cell malignancy due to an IKZF1 gain-of-function variant

CONCLUSION: Heterozygosity for gain-of-function IKZF1 variants underlies autoimmunity/inflammatory diseases, IgG4-RD and B-cell malignancies, the onset of which may occur in adulthood. Clinical and immunological data are similar to those for patients with unexplained IgG4-RD. Patients may therefore benefit from treatments inhibiting pathways displaying IKAROS-mediated overactivity.PMID:38579942 | DOI:10.1016/j.jaci.2024.03.018

Source: Clinical Lymphoma and Myeloma - April 5, 2024 Category: Cancer & Oncology Authors: Blanca Garc ía-Solís Mar ía Tapia-Torres Ana Garc ía-Soidán Elisa Hern ández-Brito Mar ía Teresa Martínez-Saavedra Jos é M Lorenzo Salazar Sonia Garc ía-Hernández Ana Van Den Rym Karan Mayani Mayani Jos é Vicente Govantes-Rodríguez Adrian Ger Source Type: research